ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.1-12(chr1:117590849-117994398)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MAN1A2 | - | - |
GRCh38 GRCh37 |
17 | 29 | |
TRIM45 | - | - |
GRCh38 GRCh37 |
38 | 50 | |
TTF2 | - | - |
GRCh38 GRCh37 |
88 | 102 | |
VTCN1 | - | - |
GRCh38 GRCh37 |
- | 12 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 8, 2021 | RCV002474800.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022